nsv2735999
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,117,559
- Publication(s):Leppa et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 361628 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 359979 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 104293 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2735999 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 84,652 | 133,202,210 |
| nsv2735999 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 282,465 | 133,778,796 |
| nsv2735999 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 64,079 | 132,288,869 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13593695 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13593695 | Remapped | Good | NC_000012.12:g.(?_ 84652)_(133202210_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 84,652 | 133,202,210 |
| nssv13593695 | Remapped | Good | NC_000012.11:g.(?_ 282465)_(133778796 _?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 282,465 | 133,778,796 |
| nssv13593695 | Submitted genomic | NC_000012.10:g.(?_ 64079)_(132288869_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 64,079 | 132,288,869 |